R46T (p.Arg46Thr) variant of LRP2 (P98164)
R46T (p.Arg46Thr) in LRP2 (P98164) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R46T (p.Arg46Thr) variant details
- p.Arg46Thr
- ExAC rs757970183
- gnomAD rs757970183
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 21.50
- PolyPhen-2 0.86
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available